| Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation. | |
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MedLine Citation:
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PMID: 7363502 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A patient is reported with a severe type 2 Klippel-Feil syndrome, and absent ulna and ulnar ray. The severity of the musculo-skeletal involvement did not allow for corrective procedures. This uncommon association of skeletal malformations has not been previously reported. Since this syndrome has been described in families as a possible autosomal recessive trait, a 25% recurrence risk and the possibility of prenatal detection by fetal visualization methods should be taken into consideration. |
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Authors:
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J Chemke; R Nisani; R E Fischel |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 17 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1980 Feb |
Date Detail:
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Created Date: 1980-06-25 Completed Date: 1980-06-25 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 167-70 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Female Humans Infant Klippel-Feil Syndrome / genetics*, radiography Ulna / abnormalities*, radiography |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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